Varaico: Literature-Extracted Genetic Variants

Gene:TBC1D2B
Variant:p.L220fs

TBC1D2B

52 papers

Pfam Domains

PHaa 35–137UCSCPH domain
RabGAP-TBCaa 665–876UCSCRab-GTPase-TBC domain

Gene Aliases

HGNC Name

TBC1 domain family member 2B

HGNC Alias Symbol

KIAA1055

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_144572.2
p.L220fs
c.658_659fs
Surrounding Variants
4 papers
NM_144572.2
p.L220delFs
c.658_659delAA
1 paper
NM_144572.2
p.A208T
c.622G>A
3 papers
NM_144572.2
p.V199delFs
c.595delC
3 papers
NM_144572.2
p.V199fs
c.595_596fs
1 paper
NM_144572.2
p.A190insFs
c.570dupT
1 paper
NM_144572.2
p.V191fs
c.571_572fs
1 paper
NM_144572.2
p.R153K
c.458G>A
4 papers
NM_144572.2
p.C142insFs
c.426dupT
1 paper
NM_144572.2
p.C142F
c.425G>T
1 paper
NM_144572.2
p.N123N
c.369T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."